title: Allele *2 of the HS1,2A enhancer of the Ig regulatory region associates with rheumatoid arthritis.
abstract: OBJECTIVE
  To investigate the role of the HS1,2 enhancer polymorphisms as a new candidate marker for rheumatoid arthritis (RA) and to define the possible association with autoantibody positivity and clinical outcome.
  
  
  METHODS
  Genomic DNA was obtained from two cohorts of patients with RA (100 with early RA (ERA) and 114 with longstanding RA (LSRA)) and from 248 gender-matched controls from the same geographical area. Clinical and immunological characteristics were recorded for all the patients.
  
  
  RESULTS
  The percentage of the 2/2 genotype was higher in patients with ERA (27.0%), and in patients with LSRA (34.2%), than in controls (14.9%) (ERA: OR = 2.11 (95% CI 1.20 to 3.70) vs controls; LSRA: OR = 2.96 (95% CI 1.76 to 5.00) vs controls). A lower representation of allele *3 was present in patients with ERA (2.0%) than in controls (6.0%; OR = 0.32 (95% CI 0.11 to 0.91)). No significant associations were found between polymorphisms and autoantibodies positivity.
  
  
  CONCLUSIONS
  The HS1,2A allele *2 associates with early and longstanding RA.
authors.affiliation: Division of Rheumatology, School of Medicine, Catholic University of the Sacred Heart, Rome, Italy.
authors.forename: B
authors.initials: B
authors.lastname: Tolusso
authors.forename: D
authors.initials: D
authors.lastname: Frezza
authors.forename: C
authors.initials: C
authors.lastname: Mattioli
authors.forename: A L
authors.initials: AL
authors.lastname: Fedele
authors.forename: S
authors.initials: S
authors.lastname: Bosello
authors.forename: F
authors.initials: F
authors.lastname: Faustini
authors.forename: G
authors.initials: G
authors.lastname: Peluso
authors.forename: V
authors.initials: V
authors.lastname: Giambra
authors.forename: D
authors.initials: D
authors.lastname: Pietrapertosa
authors.forename: A
authors.initials: A
authors.lastname: Morelli
authors.forename: E
authors.initials: E
authors.lastname: Gremese
authors.forename: M
authors.initials: M
authors.lastname: De Santis
authors.forename: G F
authors.initials: GF
authors.lastname: Ferraccioli
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D018501:Antirheumatic Agents / Q000627:therapeutic use; D001172:Arthritis, Rheumatoid / Q000188:drug therapy / Q000235:genetics* / Q000276:immunology; D001323:Autoantibodies / Q000097:blood; D015331:Cohort Studies; D004742:Enhancer Elements, Genetic; D005260:Female; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D012045:Regulatory Sequences, Nucleic Acid; D012217:Rheumatoid Factor / Q000097:blood; D012720:Severity of Illness Index; D016896:Treatment Outcome
chemical_list: D018501:Antirheumatic Agents; D001323:Autoantibodies; D005819:Genetic Markers; C530726:HS1,2-A enhancer protein, human; D007143:Immunoglobulin Heavy Chains; D012217:Rheumatoid Factor